Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report
Abstract Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 is the cause of GPI deficiency. Fifty-seven GPI mut...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2022-08-01T00:00:00Z.
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| Summary: | Abstract Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 is the cause of GPI deficiency. Fifty-seven GPI mutations have been reported at the molecular level. Case presentation A 5-month-old boy was presented with repeated episodes of jaundice after birth. He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. Whole-exome sequencing showed that he has a missense mutation c.301G > A (p.Val101Met) in exon 4 and a frameshift mutation c.812delG (p.Gly271Glufs*131) in exon 10. Mutation p.Gly271Glufs*131 is a novel frameshift null mutation in GPI deficiency. Conclusion In a patient with recurrent jaundice since birth, mutations in the GPI gene associated with HNSHA should be evaluated. The c.812delG (p.Gly271Glufs*131) variant may be a novel mutation of the GPI gene. Compound heterozygous mutations c.301G > A (p.Val101Met) and c.812delG (p.Gly271Glufs*131) are not relevant to neurological impairment. |
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| Item Description: | 10.1186/s12887-022-03522-9 1471-2431 |